Barclay A R, Sholler G, Christodolou J, Shun A, Arbuckle S, Dorney S, Stormon M O
Department of Gastroenterology, Children's Hospital Westmead, Locked Bag 4001, Westmead, Sydney, NSW 2145, Australia.
J Inherit Metab Dis. 2005;28(6):1081-9. doi: 10.1007/s10545-005-4484-x.
Mitochondrial respiratory chain (RC) abnormalities in children can present as multiorgan disease, including liver failure, usually within the first year of life. Cardiorespiratory complications have previously been described in association with RC defects; however, to our knowledge no cases of pulmonary hypertension have been described. We discuss two patients with proven mitochondrial RC liver disease who developed severe pulmonary hypertension, one subsequent to cadaveric orthotopic liver transplantation, the second in the neonatal period. It is our contention that pulmonary hypertension should now be included as another potential manifestation of paediatric mitochondrial disease.
儿童线粒体呼吸链（RC）异常可表现为多器官疾病，包括肝衰竭，通常在出生后第一年内出现。此前已有关于心肺并发症与RC缺陷相关的描述；然而，据我们所知，尚未有肺动脉高压病例的报道。我们讨论了两名经证实患有线粒体RC肝病并发生严重肺动脉高压的患者，其中一名是在尸体原位肝移植后出现，另一名是在新生儿期出现。我们认为，肺动脉高压现在应被列为儿童线粒体疾病的另一种潜在表现形式。
